Genetic Diagnosis of Factor V Leiden Using Heteroduplex Technology

D J Bowen; G R Standen; S Granville; S Bowley; N A P Wood; J Bidwell

doi:10.1055/s-0038-1655917

Thrombosis and Haemostasis, Table of Contents

Thromb Haemost 1997; 77(01): 119-122
DOI: 10.1055/s-0038-1655917

Coagulation

Schattauer GmbH Stuttgart

Genetic Diagnosis of Factor V Leiden Using Heteroduplex Technology

D J Bowen

¹The hemostasis Research Laboratory, The Arthur Bloom Center, Department of Haematology, University of Wales College of Medicine, Heath Park, Cardiff, S Wales, UK

,

G R Standen

²Molecular Haematology Unit, Department of Haematology, Bristol Royal Infirmary, Bristol, UK

,

S Granville

¹The hemostasis Research Laboratory, The Arthur Bloom Center, Department of Haematology, University of Wales College of Medicine, Heath Park, Cardiff, S Wales, UK

,

S Bowley

¹The hemostasis Research Laboratory, The Arthur Bloom Center, Department of Haematology, University of Wales College of Medicine, Heath Park, Cardiff, S Wales, UK

,

N A P Wood

³Department of Transplantation Sciences, University of Bristol, Bristol Homoeopathic Hospital Site, Bristol, UK

,

J Bidwell

³Department of Transplantation Sciences, University of Bristol, Bristol Homoeopathic Hospital Site, Bristol, UK

› Author Affiliations

Abstract

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Summary

A new genetic test has been developed for detection of the mutation known as factor V Leiden. The test employs heteroduplex technology and comprises a single PCR reaction followed immediately by PCR product analysis. It therefore represents the minimum practical route from blood/tissue sample to genetic result. A cohort of 100 patients with a history of thrombosis have been screened using both the new heteroduplex test and a previously described PCR-restriction endonuclease test. Results gave 100% correlation: normals 75 (75%), heterozygotes 24 (24%) and homozygotes 1 (1%). The heteroduplex test has been shown to give straightforward diagnosis in three different analytical systems: standard polyacrylamide gel electrophoresis (PAGE), mini-gel PAGE and capillary electrophoresis. The latter system is semiautomated, therefore rapid through-put of large sample numbers is now · possible.

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References

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